SNRPN/UBE3A Methylation Analysis Angelman Syndrome with Interpretation
Label Mnemonic: AS
Epic Lab Code: LAB2443
Downtime Form: A-1a Doctor/Provider Orders - Pathology Molecular
Molecular Pathology
6004 BT GH
Whole Blood
Collection Medium:
Lavender top tube 3 mL (EDTA)
Adults - 3 mL whole blood in lavender top tube (EDTA) Children - 2 mL whole blood in lavender top tube (EDTA) Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing. Testing requires a dedicated collection tube.
Delivery Instructions:
Room temperature up to 24 hours. Refrigerate overnight, weekends and holidays.
Testing Schedule:
Turn Around Time:
21 days
Reference Range:
Angelman syndrome - absent maternal 15q12
Southern Blot (Methylation detection)
CPT Code:
See also:
Chromosomal Analysis, Peripheral Blood, Cord Blood
Fluorescence In-Situ Hybridization (FISH-Microdeletion), Peripheral Blood, Fibroblasts, Other Tissue
SNRPN/UBE3A Methylation Analysis Prader-Willi with Interpretation, Whole Blood